ClinVar

NM_032409.3(PINK1):c.139G>C (p.Gly47Arg)

Genes:

PINK1:PTEN induced kinase 1 [Gene - OMIM - HGNC]
MIR6084:microRNA 6084 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 20633687 (on Assembly GRCh38)
• Chr1: 20960180 (on Assembly GRCh37)

Preferred name:

NM_032409.3(PINK1):c.139G>C (p.Gly47Arg)

HGVS:

• NC_000001.11:g.20633687G>C
• NG_008164.1:g.5233G>C
• NM_032409.3:c.139G>CMANE SELECT
• NP_115785.1:p.Gly47Arg
• NC_000001.10:g.20960180G>C
• NM_032409.2:c.139G>C
• NR_106732.1:n.9G>C

This HGVS expression did not pass validation

Protein change:

G47R

Links:

dbSNP: rs746940423

NCBI 1000 Genomes Browser:

rs746940423

Molecular consequence:

• NM_032409.3:c.139G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_106732.1:n.9G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1